Joubert syndrome with Jeune asphyxiating thoracic dystrophy is an extremely rare genetic bone disorder. It features the classic signs of Joubert syndrome such as a malformation of the brainstem which can lead to issues like ataxia (problems with movement), low muscle tone (hypotonia), challenges with cognition, and unusual eye movements. In addition to these neurological symptoms, people with this condition also have skeletal anomalies similar to those seen in Jeune asphyxiating thoracic dystrophy. These include short-rib dysplasia, a narrow chest that can cause breathing difficulties, shortened limbs, and changes in the areas where bones grow (metaphyseal changes).

People with this condition may experience problems with coordination (ataxia), low muscle tone, cognitive challenges, and unusual eye movements. They may also show signs of skeletal abnormalities such as a narrow chest which can affect breathing, short ribs, short limbs, and changes in bone growth regions.

Joubert syndrome with Jeune asphyxiating thoracic dystrophy is a genetic condition. It is a rare disorder where changes in genes lead to both brainstem malformations, as seen in Joubert syndrome, and skeletal abnormalities, typical of Jeune asphyxiating thoracic dystrophy. Information about specific gene mutations or detailed inheritance patterns is currently limited for this condition. Associated genes include KIAA0586, CSPP1.